Found: 22
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The androgen receptor gene mutations database (ARDB): 2004 update.
- Published in:
- Human Mutation, 2004, v. 23, n. 6, p. 527, doi. 10.1002/humu.20044
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- Article
PromoLign: A database for upstream region analysis and SNPs.
- Published in:
- Human Mutation, 2004, v. 23, n. 6, p. 534, doi. 10.1002/humu.20049
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- Article
Identification and characterization of ANKK1: A novel kinase gene closely linked to DRD2 on chromosome band 11q23.1.
- Published in:
- Human Mutation, 2004, v. 23, n. 6, p. 540, doi. 10.1002/humu.20039
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- Article
Identification of a functional mutation in pp32r1 (ANP32C).
- Published in:
- Human Mutation, 2004, v. 23, n. 6, p. 546, doi. 10.1002/humu.20030
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- Article
Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.
- Published in:
- Human Mutation, 2004, v. 23, n. 6, p. 552, doi. 10.1002/humu.20032
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- Article
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
- Published in:
- Human Mutation, 2004, v. 23, n. 6, p. 559, doi. 10.1002/humu.20037
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- Article
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and 'modifier' polymorphisms.
- Published in:
- Human Mutation, 2004, v. 23, n. 6, p. 567, doi. 10.1002/humu.20043
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- Article
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
- Published in:
- Human Mutation, 2004, v. 23, n. 6, p. 576, doi. 10.1002/humu.20040
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- Article
Branchio-oto-renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences.
- Published in:
- Human Mutation, 2004, v. 23, n. 6, p. 582, doi. 10.1002/humu.20048
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- Article
General implications for CpG hot spot mutations: Methylation patterns of the human iduronate-2-sulfatase gene locus.
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- Human Mutation, 2004, v. 23, n. 6, p. 590, doi. 10.1002/humu.20046
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- Article
Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase ( HPRT1) locus.
- Published in:
- Human Mutation, 2004, v. 23, n. 6, p. 599, doi. 10.1002/humu.20047
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- Article
Denaturing high-performance liquid chromatography (DHPLC) as a reliable high-throughput prescreening method for aberrant promoter methylation in cancer.
- Published in:
- Human Mutation, 2004, v. 23, n. 6, p. 612, doi. 10.1002/humu.20033
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- Article
An improved electronic microarray-based diagnostic assay for identification of MEFV mutations.
- Published in:
- Human Mutation, 2004, v. 23, n. 6, p. 621, doi. 10.1002/humu.20045
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- Article
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
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- Human Mutation, 2004, v. 23, n. 6, p. 629, doi. 10.1002/humu.9245
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- Article
Erratum: Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients.
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- Human Mutation, 2004, v. 23, n. 6, p. 629, doi. 10.1002/humu.9244
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- Article
Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH).
- Published in:
- Human Mutation, 2004, v. 23, n. 6, p. 629, doi. 10.1002/humu.9246
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- Article
Familial melanoma, pancreatic cancer and germline CDKN2A mutations.
- Published in:
- Human Mutation, 2004, v. 23, n. 6, p. 630, doi. 10.1002/humu.9247
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- Article
Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.
- Published in:
- Human Mutation, 2004, v. 23, n. 6, p. 630, doi. 10.1002/humu.9248
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- Article
Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.
- Published in:
- Human Mutation, 2004, v. 23, n. 6, p. 631, doi. 10.1002/humu.9249
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- Article
GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary.
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- Human Mutation, 2004, v. 23, n. 6, p. 631, doi. 10.1002/humu.9250
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- Article
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.
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- Human Mutation, 2004, v. 23, n. 6, p. 632, doi. 10.1002/humu.9252
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- Article
BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension.
- Published in:
- Human Mutation, 2004, v. 23, n. 6, p. 632, doi. 10.1002/humu.9251
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- Article